a Record control number 000294820200011

a ISSN 1342-1751

a Original cataloging agency NEU GrandLibrary

a Language code of text/sound track or separate title eng

a Classification number WJ 140

b Item number .H47 2011

a Personal name Topaloglu, Rezan.

h Medium Electronic Document

a Title Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features.

c Statement of responsibility, etc Rezan Topaloglu, Esra Baskın, Elif Bahat, Salih Kavukcu, Nilgun Cakar, Osman Donmez, Ayfer Gur Guven, Salim Calıskan, Ozlem Erdogan, Fatos Yalcınkaya.

b Name of publisher, distributor, etc Springer,

c Date of publication, distribution, etc 2011.

a Place of publication, distribution, etc New York :

a Summary, etc The Turkish Renal Tubular Disorders Working Group aimed to form a patient registry database and gathered demographic, clinical, and laboratory data in various hereditary renal tubular disorders (HRTDs). A questionnaire comprising HRTDs was sent to the centers. The cohort was composed of 226 patients (109 girls, 117 boys). The distribution of patients according to HRTD was as follows: 45.6% distal renal tubular acidosis (dRTA), 26.6% proximal RTA (pRTA), 3.5% type IV RTA, 21.7% Bartter's syndrome, and 2.6% Gitelman's syndrome. Cystinosis was the most common cause for renal Fanconi syndrome. Age at diagnosis was between 1 month and 16 years. Overall consanguinity rate was as high as 72%. Rate of affected siblings was 28.5%. pRTA and type IV RTA were more common in males. Most common presenting symptoms were failure to thrive, lack of appetite, and vomiting. Nephropathic cystinosis was the most common HRTD leading to renal failure, followed by dRTA. Hearing loss was present in 23% of patients with dRTA and 6.3% of patients with Bartter's syndrome. No other patient had hearing loss. Convulsions were noted in Bartter's syndrome patients with failure to thrive, especially in those with height below 3%. Polyuria and nephrocalcinosis were more common in dRTA patients with deafness compared with patients without deafness. This data reflected a high number of HRTDs as a result of high consanguinity rate in Turkey. Our data serve as a database of demographic, clinical, and laboratory features of this rare disease group.

a Topical term or geographic name as entry element Urology & Nephrology

a Topical term or geographic name as entry element Near East University Article

a Topical term or geographic name as entry element Yakın Doğu Üniversitesi Makale

a Topical term or geographic name as entry element Acidosis

a Topical term or geographic name as entry element Mutatıons

a Main entry heading Clinical And Experimental Nephrology

g Relationship information FEB 2011, Vol 15 Issue 1, p108-113

x International Standard Serial Number 13421751

u Uniform Resource Identifier http://library.neu.edu.tr:2048/login?url=http://dx.doi.org/10.1007/s10157-010-0367-z